Variant report

Variant	rs2296326
Chromosome Location	chr14:65414372-65414373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65414056-65414508	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:65414261-65414585	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:65414319-65414490	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:65414364-65414402	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65411390..65415173-chr14:65438187..65441044,4	MCF-7	breast:
2	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
3	chr14:65409377..65412312-chr14:65414249..65416827,3	K562	blood:
4	chr14:65408459..65411716-chr14:65412606..65416966,4	MCF-7	breast:
5	chr14:65409377..65412312-chr14:65414249..65416590,2	K562	blood:

No data

Variant related genes	Relation type
GPX2	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000176153	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10136196	0.86[ASN][1000 genomes]
rs10145845	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1064108	0.89[CHD][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs11540873	0.85[ASN][1000 genomes]
rs11623886	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878229	0.87[ASN][1000 genomes]
rs12879744	0.87[ASN][1000 genomes]
rs12891652	0.87[ASN][1000 genomes]
rs1951993	0.89[ASN][1000 genomes]
rs1957423	0.87[ASN][1000 genomes]
rs2071566	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2147612	0.85[ASN][1000 genomes]
rs2147616	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2277501	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412105	0.95[EUR][1000 genomes]
rs2412106	1.00[CEU][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs2412107	0.87[GIH][hapmap]
rs2737844	0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898874	0.86[ASN][1000 genomes]
rs3087955	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34852276	1.00[CEU][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34969442	0.87[ASN][1000 genomes]
rs3759681	0.80[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4243629	0.86[ASN][1000 genomes]
rs45454295	0.81[ASN][1000 genomes]
rs4899155	0.96[CEU][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs4899158	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs4902334	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4902339	0.81[ASN][1000 genomes]
rs4902352	0.87[CEU][hapmap]
rs6573586	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7143358	0.81[JPT][hapmap]
rs7359095	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs743263	0.86[CHD][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs8003530	0.86[ASN][1000 genomes]
rs8007405	0.96[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8016174	0.80[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs2296326	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2296326	CHURC1	cis	Artery Aorta	GTEx
rs2296326	CHURC1	cis	cerebellum	SCAN
rs2296326	RAB15	cis	cerebellum	SCAN
rs2296326	CHURC1	cis	Thyroid	GTEx
rs2296326	CHURC1	cis	Muscle Skeletal	GTEx
rs2296326	CHURC1	cis	lymphoblastoid	seeQTL
rs2296326	CHURC1	cis	Adipose Subcutaneous	GTEx
rs2296326	CHURC1	cis	multi-tissue	Pritchard
rs2296326	CHURC1	cis	Frontal Cortex	GTEx
rs2296326	CHURC1	cis	Brain Pons	GTEx
rs2296326	CHURC1	cis	lung	GTEx
rs2296326	CHURC1	cis	Cerebellum	GTEx
rs2296326	CHURC1	cis	Artery Tibial	GTEx
rs2296326	CHURC1	cis	Esophagus Muscularis	GTEx
rs2296326	RAB15	cis	lymphoblastoid	seeQTL
rs2296326	CHURC1	cis	parietal	SCAN
rs2296326	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs2296326	CHURC1	cis	Nerve Tibial	GTEx
rs2296326	MAX	cis	cerebellum	SCAN
rs2296326	CHURC1	cis	Temporal Cortex	GTEx
rs2296326	CHURC1	cis	Whole Blood	GTEx
rs2296326	CHURC1	cis	Esophagus Mucosa	GTEx
rs2296326	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs2296326	CHURC1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
3	chr14:65383000-65419400	Weak transcription	K562	blood
4	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:65399000-65428000	Weak transcription	NHLF	lung
7	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
10	chr14:65401600-65435000	Weak transcription	NH-A	brain
11	chr14:65402400-65415000	Weak transcription	Osteobl	bone
12	chr14:65403400-65414600	Weak transcription	Left Ventricle	heart
13	chr14:65404400-65415000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:65404400-65416600	Weak transcription	Psoas Muscle	Psoas
15	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:65404600-65414600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:65404600-65415600	Weak transcription	Fetal Heart	heart
18	chr14:65404600-65418200	Weak transcription	Brain Angular Gyrus	brain
19	chr14:65404600-65419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:65404800-65415000	Weak transcription	Ovary	ovary
21	chr14:65405000-65417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:65405800-65416200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:65406400-65415600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
25	chr14:65407400-65414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:65407400-65415200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:65407600-65414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:65407800-65417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:65408400-65415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:65409200-65416000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
32	chr14:65409800-65415200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:65410000-65414400	Weak transcription	Aorta	Aorta
34	chr14:65410000-65414800	Enhancers	HepG2	liver
35	chr14:65410000-65417000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:65410000-65418200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:65410200-65425200	Weak transcription	HMEC	breast
38	chr14:65410400-65415400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:65410400-65418200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:65410400-65419200	Strong transcription	Lung	lung
41	chr14:65410400-65425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:65410600-65421600	Weak transcription	Pancreas	Pancrea
43	chr14:65410800-65414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:65411000-65414600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:65411000-65414600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:65411000-65417600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:65411000-65423200	Weak transcription	NHEK	skin
48	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
49	chr14:65411200-65414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:65411200-65414400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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